ENU-induced G to A transition at base pair 122,627,663 (v38) on chromosome 7, or base pair 338,539 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,091 in the mRNA sequence NM_008855 within exon 17 of 17 total exons. The mutation results in an arginine to glutamine substitution at position 624 (R624Q) in the PKC protein. (J:274862)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count